AutismKB 2.0

Annotation Detail for PDE6B


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Basic Information Top
Gene Symbol:PDE6B ( CSNB3,CSNBAD2,PDEB,RP40,rd1 )
Gene Full Name: phosphodiesterase 6B, cGMP-specific, rod, beta
Band: 4p16.3
Quick LinksEntrez ID:5158; OMIM: 180072; Uniprot ID:PDE6B_HUMAN; ENSEMBL ID: ENSG00000133256; HGNC ID: 8786
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00230Purine metabolism
hsa04744Phototransduction
Pathway IDPathway Name
Hemostasis
Pathway IDPathway Name
200139Visual signal transduction: Rods
Pathway IDPathway Name
P00028Heterotrimeric G-protein signaling pathway-rod outer segment phototransduction
No data
Related Diseases/Disorders Top
No data
No data
Desease Name
retinitis pigmentosa
No data
Desease Name
Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa-40
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D005038 Ethylnitrosourea Ethylnitrosourea results in increased mutagenesis of PDE6B geneincreases mutagenesis 16123450
D014212 Tretinoin Tretinoin affects the expression of PDE6B proteinaffects expression 15789344
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000236 Adenoma Ethylnitrosourea 3.976695378
MESH:D000505 Alopecia Tretinoin 4.0215955085
MESH:D001169 Arthritis, Experimental Tretinoin 3.3516412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3416292516
MESH:D001249 Asthma Tretinoin 2.4516456186
MESH:D001471 Barrett Esophagus Tretinoin 5.0816935849
MESH:D001778 Blood Coagulation Disorders Tretinoin 4.1616197459 16206674
MESH:D001927 Brain Diseases Ethylnitrosourea 5.3914991843
MESH:D001932 Brain Neoplasms Ethylnitrosourea 4.8018412241 16357521 16651633 16436596 15144691
MESH:D001943 Breast Neoplasms Tretinoin 2.2216873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.4816813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 6.2316168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.921917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3916051514 16096774
MESH:D002386 Cataract Tretinoin 3.3417460283
MESH:D002471 Cell Transformation, Neoplastic Ethylnitrosourea 4.0416003739
MESH:D016543 Central Nervous System Neoplasms Ethylnitrosourea 7.0517160924
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.4816129372
MESH:D002822 Choriocarcinoma Tretinoin 6.2316461808
MESH:D002972 Cleft Palate Tretinoin 2.839407595
MESH:D003092 Colitis Tretinoin 4.4717035595
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8314991402 9211117 10589399 9125849 17551590 9224671 16925845 9142499 9664655 8800419
MESH:D004476 Ectodermal Dysplasia Ethylnitrosourea 7.0518357618
MESH:D004489 Edema, Cardiac Tretinoin 5.5418230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.4016569247
MESH:D005124 Eye Abnormalities Tretinoin 3.9416938888 9664655
MESH:D005355 Fibrosis Tretinoin 4.2717994277
MESH:D005909 Glioblastoma Ethylnitrosourea 8.4216436596
MESH:D005909 Glioblastoma Tretinoin 8.4217312396
MESH:D005910 Glioma Ethylnitrosourea 3.6418412241 16357521 16651633
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4916096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 6.2316084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.119664655 14991402
MESH:D006930 Hyperalgesia Tretinoin 3.6216870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.3316778211
MESH:D007410 Intestinal Diseases Tretinoin 4.5317994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.4517551590 15992940
MESH:D007680 Kidney Neoplasms Ethylnitrosourea 4.3617379185
MESH:D007938 Leukemia Tretinoin 2.9717143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.2516932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1319850784 16294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.4512679006 17217047 16823087 19642359 17301526 15748426 17649720 19035177 16140955 17339181 19225113 17107899 16891316 17361223 19029980 9834237 16935935 16766008 17294898 19075265 17506722 17368321 16331271 17712046 16788101
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.659224671
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 1.8118397230 16248980
MESH:D008175 Lung Neoplasms Ethylnitrosourea 2.636695378 16271038 17703301 16019985
MESH:D008223 Lymphoma Ethylnitrosourea 4.2815790496
MESH:D016399 Lymphoma, T-Cell Ethylnitrosourea 5.8115375218
MESH:D008325 Mammary Neoplasms, Experimental Ethylnitrosourea 3.8010838139 10767621 18041768
MESH:D008527 Medulloblastoma Tretinoin 2.9317453147
MESH:D008545 Melanoma Tretinoin 1.9916752155
MESH:D008579 Meningioma Ethylnitrosourea 7.0517943659
MESH:D008591 Meningomyelocele Tretinoin 5.1916940565
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.3217596541
MESH:D009369 Neoplasms Tretinoin 2.6016594593 16946489
MESH:D009374 Neoplasms, Experimental Ethylnitrosourea 5.1616707424
MESH:D009421 Nervous System Malformations Tretinoin 4.459125849
MESH:D009436 Neural Tube Defects Tretinoin 3.359142499
MESH:D009442 Neurilemmoma Ethylnitrosourea 6.3017160924 16003739 16651423
OMIM:163500 NIGHT BLINDNESS, CONGENITAL STATIONARY, AUTOSOMAL DOMINANT 2 marker/mechanism
MESH:D009837 Oligodendroglioma Ethylnitrosourea 7.0517160924
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4616936753
MESH:D010146 Pain Tretinoin 3.3316870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5915976015
MESH:D011507 Proteinuria Tretinoin 4.2116636307
MESH:D011625 Pterygium Tretinoin 5.6816723453
MESH:D012162 Retinal Degeneration marker/mechanism 16123450
MESH:D012174 Retinitis Pigmentosa marker/mechanism
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.7116116481 16283617
MESH:D012878 Skin Neoplasms Tretinoin 2.7916467112
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D013953 Thymus Neoplasms Ethylnitrosourea 6.0515790496
MESH:D013964 Thyroid Neoplasms Tretinoin 3.4016026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 4.2916051514
MESH:D014376 Tuberculosis Tretinoin 3.5016040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.1816129372
MESH:D014604 Uveal Neoplasms Tretinoin 5.6816752155
MESH:D014820 Vitiligo Tretinoin 4.7316761959
MESH:D009396 Wilms Tumor Tretinoin 4.4416287080
Pathway ID Pathway Name
REACT:604 Hemostasis
KEGG:04744 Phototransduction
KEGG:00230 Purine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA33134
    • No data
    No data
    Releated drug ID Related drug Name
    PA450191lecithin
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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